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Leigh syndrome with cardiomyopathy
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Atypical hemolytic uremic syndrome with DGKE deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Leigh syndrome with cardiomyopathy
Atypical hemolytic uremic syndrome with DGKE deficiency

COA5
(UniProt - OMIM)
 DGKE
(UniProt - OMIM)
COX10
(UniProt - OMIM)
COX15
(UniProt - OMIM)
COX6B1
(UniProt - OMIM)
PDHA1
(UniProt - OMIM)
SCO2
(UniProt - OMIM)
SURF1
(UniProt - OMIM)
TACO1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PDHA1
(0.76)
DGKE


Citations in the biomedical literature:


Leigh syndrome with cardiomyopathy
COA5 COX10 COX15 COX6B1 PDHA1 SCO2
SURF1 TACO1
Atypical hemolytic uremic syndrome with DGKE deficiency
DGKE



Leigh syndrome with cardiomyopathy
Atypical hemolytic uremic syndrome with DGKE deficiency

Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Synonym(s):
- Atypical HUS with DGKE deficiency
- D-HUS with DGKE deficiency
- Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
- aHUS with DGKE deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.